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Valarie Kerschen M.D

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Valarie Kerschen M.D Valarie Kerschen M.D. Greek word meaning “self” 1940’s – Dr Leo Kanner describes classic autism 1940’s – Dr Hans Asperger describes Aspergers Syndrome 1960’s – Autism theorized to be due to “refrigerator mothers” 1967 – classified under schizophrenia 1980 – classified as a developmental disorder 1994 – Aspergers Syndrome added to the classification of Autism Disorders 1990 – Children with Autism deemed eligible for special education services Once considered to be a rare disorder Current research indicates that 1 out of 150 children have an autism spectrum disorder Changes in diagnostic criteria Inclusion of Aspergers Disorder in 1994 Diagnostic substitution Real increase in numbers????????????? Exact cause of Autism is unknown Considerable research being conducted to determine cause or causes Unlikely to find one major cause due to the variability and complexity in symptoms of Autism More common in boys 4-6 boys: 1 girl Recurrence risk – 5-6% if have one sibling with autism and may be as high as 25% if more than one sibling w/ Autism Studies have implicated sites on nearly every chromosome Identical twins have a concordance rate of 60% Fragile X Syndrome Tuberous Sclerosis Angelman syndrome Smith-Lemli-Opitz Syndrome Fetal Alcohol Syndrome Prematurity Prenatal exposure to certain medications Advanced maternal or paternal age Living in areas with high amounts of precipitation Environmental exposures Changes in brain pathology Concern over vaccines or the preservatives in vaccines as a causative factor in the development of Autism Thimerisol ( a vaccine preservative) has been removed from childhood vaccines with no decrease in rates of autism Institute of Medicine (2001) concluded that no evidence of association found between the MMR vaccine and autism Diagnostic criteria are published in the Diagnostic and Statistical Manual of Mental Disorders -IV Pervasive Developmental Disorder • Autism • Aspergers Disorder • Pervasive Developmental Disorder (not otherwise specified) PDD(NOS) • Retts Syndrome • Childhood Disintegrative Disorder Broad term used to describe the Pervasive Developmental Disorders • Autism • Aspergers • Pervasive Developmental Disorder(Not otherwise specified) Deficits in Social Interaction Skills Impairment in Communication Skills Repetitive behaviors Impairment in use of non-verbal behaviors to modulate social interaction Failure to develop peer relationships Lack of spontaneously seeking to share enjoyment or interests with others Lack of social or emotional reciprocity Delay or total lack of spoken language In individuals with speech, lack of ability to maintain conversation Repetitive use of language or idiosyncratic language Lack of varied spontaneous or make- believe play Encompassing preoccupation or restricted pattern of interest Inflexible adherence to nonfunctional routines Stereotyped and repetitive motor mannerisms Persistent preoccupation with parts of objects Current diagnostic criteria may not be applicable to children under the age of three – yet we know we can identify children with autism as young as 14 months Disordered development is common in children with autism • Examples include learning the alphabet before being able to ask for a drink of milk More specific for autism than delayed language development Typically more subtle Less universally recognized Characterized by aloofness, difficulty with eye contact, content to play alone Joint attention – probably the single best predictor of autism in young children Normal joint attention characterized by the joy a child shows when sharing his interests with another Early on is manifested with use of gaze and later on matures into use of speech and gestures Spontaneous (8 – 10 months) • Infant is able to follow a parents shift in gaze Responding (10 – 12 months) • “follow a point” Initiating (12 -16 months) • Requesting • Commenting Turns when name is called (8 – 10 month) Many parents who have children with autism first had concerns about their child's hearing Simple pretend play (16 – 18 months) • Use representative objects to pretend such as telephone or bottle Complex pretend play (18 – 20 months) • Use generic items to pretend such as using a banana as a phone Prelinguistic • Unusually quiet , little babbling, atypical vocalizations • Fewer gestures – lifting arms to be picked up, waving, pointing Linguistic • Delay or lack of language, unusual language development, echolalia, “pop-up” words Attachment to unusual objects Repetitive motor movements 25 – 30% have regression in communications skills and social interaction skills Typically occurs between 12 – 24 months Visual Tactile Oral Motor Cognitive Abnormalities • Cognitive delay / MR • Splinter Skills Seizures • 11-39% and correlation with degree of cognitive delay • 2 peaks before age 5 and adolescence Sleep Disturbances Behavior • Hyperactivity • Aggression • Self-Injurious Behavior Educational Interventions • Socialization • Communication • Adaptive skills • Behavioral interventions • Academics Behavior analytic • Applied behavior Analysis / Lovaas Structured • TEACCH Developmental • Greenspan / Floortime model Early entry Intensive intervention Low student-to-teacher ratio Family teaching High degree of structure Speech and language therapy Occupational therapy Dietary interventions • GFCF diet Dietary supplements • Vitamin B6, DMG, Magnesium Chelation therapy Identification and Evaluation of Children with Autism Spectrum Disorders , Pediatrics volume 120, Number 5, Nov 2007 Management of Children with Autism Spectrum Disorders, Pediatrics Volume 120, Number 5 November 2007 Recognition of Autism Before Age 2 Years, Pediatrics in Review Volume 29, Number 3, March 2008 .
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